SCA-LSVD: A Repeat-Oriented Locus-Specific Variation Database for Genotype to Phenotype Correlations in Spinocerebellar Ataxias
IR@IGIB: CSIR-Institute of Genomics & Integrative Biology, New Delhi
View Archive Info| Field | Value | |
| Title |
SCA-LSVD: A Repeat-Oriented Locus-Specific Variation
Database for Genotype to Phenotype Correlations in
Spinocerebellar Ataxias
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| Creator |
Faruq, Mohammed
Scaria, Vinod Singh, Inder Tyagi, Shivani Srivastava, Achal K. Mukerji, Mitali |
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| Subject |
G1 Genome informatics (General)
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| Description |
ABSTRACT: Repeat expansion has been implicated in 10
out of 17 candidate genes identified for autosomal
dominant cerebellar ataxias (ADCAs)—commonly referred
as spinocerebellar ataxias (SCAs). Though genetically
distinct, the SCAs share a large number of features that
confound their clinical classification. In addition, there is a
difference in the prevalence and phenotypic expression of
ataxias between different ethnic groups. We have created a
new SCA-locus-specific variation database (LSVD) that
aims to catalog and integrate information on SCAs
associated with trinucleotide repeat expansion (SCA1,
SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17,
Friedreich’s ataxia [FRDA], and dentatorubral-pallidoluy-
sian atrophy [DRPLA]) from all over the world. The
database has been developed using the Leiden Open
(source) Variation Database (LOVD) software (Leiden
University Medical Center, Leiden, the Netherlands). The
database houses detailed information on clinical features,
such as age and symptom at onset, mode of inheritance,
and genotype information, pertaining to the SCA patients
from more than 400 families across India. All the compiled
genotype data conforms to the HGVS Nomenclature
guidelines. This would be a very useful starting point for
understanding the molecular correlates of phenotypes in
ataxia—a multilocus disease in which related molecular
mechanisms converge to overlapping phenotypes. The
database is accessible online at http://miracle.igib.res.in/
ataxia.
Hum Mutat 30:1037–1042, 2009. & 2009 Wiley-Liss, Inc.
KEY WORDS: SCA-LSVD; variation database; trinucleo-
tide repeats; ataxia
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| Date |
2009-03-03
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://openaccess.igib.res.in/96/1/21006_ftp.pdf
Faruq, Mohammed and Scaria, Vinod and Singh, Inder and Tyagi, Shivani and Srivastava, Achal K. and Mukerji, Mitali (2009) SCA-LSVD: A Repeat-Oriented Locus-Specific Variation Database for Genotype to Phenotype Correlations in Spinocerebellar Ataxias. PubMed, 30 (7). pp. 1037-1042. |
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| Relation |
http://openaccess.igib.res.in/96/
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